Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. - Wikidata - awgldk - TriplyDB

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

http://www.wikidata.org/entity/Q35437015

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Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.Gene-network analysis identifies susceptibility genes related to glycobiology in autism Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).Diagnostic genome profiling in mental retardation.Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.Genetics and pathophysiology of mental retardation.The epidemiology of mental retardation: challenges and opportunities in the new millennium.American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.Learning difficulties: what the neurologist needs to know.Telomeres: a diagnosis at the end of the chromosomes Chromosome analysis: what and when to request Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis."Molecular rulers" for calibrating phenotypic effects of telomere imbalance.Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).Genomic imbalances in mental retardation.2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Segmental polymorphisms in the proterminal regions of a subset of human chromosomes.Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.A subtelomeric translocation apparently implied in multiple abortions.Phenotypic heterogeneity of genomic disorders and rare copy-number variants.Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities Absence of subtelomeric rearrangements in selected patients with mental retardation as assessed by multiprobe T FISH.Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays To determine the frequency of subtelomeric abnormalities in children with idiopathic mental retardation.Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.

P2860

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P2860

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

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Journal of Medical Genetics

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Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

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Homfray T

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P2860

Subtle chromosomal rearrangements in children with unexplained mental retardation

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

Two 22q telomere deletions serendipitously detected by FISH

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres.

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.

The prevalence of mental retardation: a critical review of recent literature.

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

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